Varaico: Literature-Extracted Genetic Variants

Gene:KRT5
Variant:p.D158V
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KRT5

NM_000424.4:p.D158V

Associated Papers

Mutant Proteomics of Lung Adenocarcinomas Harboring Different EGFR Mutations.

Nishimura T et al.

Frontiers in Oncology, 2020

32983988 (PubMed )
Supplement: Data_Sheet_2.xlsx › AZ001

Digenic inheritance in epidermolysis bullosa simplex involving two novel mutations in KRT5 and KRT14.

Kim E et al.

The British Journal of Dermatology, 2017

Type 1 segmental Galli-Galli disease resulting from a previously unreported keratin 5 mutation.

Arnold AW et al.

The Journal of Investigative Dermatology, 2012

Novel mutation (Asp158Val) in H1 domain of keratin 5 gene in a Japanese patient with Köbner-type epidermolysis bullosa simplex.

Saeki H et al.

The Journal of Dermatology, 2006

Epidermolysis bullosa simplex in Japanese and Korean patients: genetic studies in 19 cases.

Yasukawa K et al.

The British Journal of Dermatology, 2006

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."